Amyloid precursor proteins are processed by beta-secretase and gamma-secretase to produce beta-amyloid peptides which form the characteristic plaques of Alzheimer disease. This gene encodes a transmembrane protein which is processed at the C-terminus by furin or furin-like proteases to produce a small secreted peptide which inhibits the deposition of beta-amyloid. Mutations which result in extension of the C-terminal end of the encoded protein, thereby increasing the size of the secreted peptide, are associated with two neurogenerative diseases, familial British dementia and familial Danish dementia. [provided by RefSeq, Oct 2009]
Transcription factors with Perturb-seq knockdown data for ITM2B. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = ITM2B upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.
| TF | Mean coef | Binding | Outlier | TF→Gene link |
|---|
Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of ITM2B, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.
| Accessibility | Element | Dist. to TSS | Link type | TFs |
|---|---|---|---|---|
| chr13:48,000,679–48,002,503 | 231.8 kb | Distal (>10kb) Multiome | 801 | |
| chr13:48,037,295–48,039,275 | 195.4 kb | Distal (>10kb) Multiome | 1096 | |
| chr13:48,094,468–48,095,500 | 138.1 kb | Distal (>10kb) Multiome | 866 | |
| chr13:48,232,588–48,234,160 | 35 bp | At TSS Multiome | 750 | |
| chr13:48,235,616–48,235,996 | 2.4 kb | Proximal (<10kb) | 198 | |
| chr13:48,303,216–48,304,354 | 70.5 kb | Distal (>10kb) Multiome | 827 | |
| chr13:48,531,782–48,533,660 | 299.6 kb | Distal (>10kb) Multiome | 884 |
Genomic view of the ITM2B locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.